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Three diagnostic signs in Williams syndrome
1Department of Pediatrics, University of Nevada School of Medicine, Las Vegas 89102.
American Journal of Medical Genetics. Supplement
|January 1, 1990
Summary
This study identified three physical signs in Williams syndrome patients: unusual sacral creases, linear hemangiomas on the back, and limited supination. These findings highlight less-reported manifestations of this genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Williams syndrome is a rare genetic disorder with characteristic facial features and developmental delays.
- Previous reports have focused on common physical and cognitive aspects of Williams syndrome.
Purpose of the Study:
- To document and emphasize three physical manifestations of Williams syndrome that may have been underreported.
- To add to the clinical understanding of the physical phenotype in Williams syndrome.
Main Methods:
- A retrospective review of 48 patients diagnosed with Williams syndrome.
- Examination of patient records for specific physical findings between 1984 and 1988.
Main Results:
- Unusual sacral creases were observed in 25 out of 48 patients (52%).
- A linear arrangement of hemangiomas (nevus flammeus) on the back was noted in 3 out of 48 patients (6%).
- Limitation of supination of the forearm was present in 5 out of 48 patients (10%).
Conclusions:
- Unusual sacral creases, linear back hemangiomas, and limited supination are notable physical findings in Williams syndrome.
- These manifestations should be considered in the comprehensive clinical evaluation of individuals with Williams syndrome.
- Further research may elucidate the prevalence and significance of these physical signs in Williams syndrome.